DFNB77
MCID: DFN108
MIFTS: 37

Deafness, Autosomal Recessive 77 (DFNB77)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 77

MalaCards integrated aliases for Deafness, Autosomal Recessive 77:

Name: Deafness, Autosomal Recessive 77 57 29 13 6 70
Dfnb77 57 12 72
Autosomal Recessive Nonsyndromic Deafness 77 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77 72
Deafness, Autosomal Recessive, Type 77 39
Deafness, Autosomal Recessive, 77 72
Autosomal Recessive Deafness 77 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families
onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family


HPO:

31
deafness, autosomal recessive 77:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110525
OMIM® 57 613079
OMIM Phenotypic Series 57 PS220290
MeSH 44 D003638
ICD10 32 H90.3
MedGen 41 C2746083
SNOMED-CT via HPO 68 194424005 258211005
UMLS 70 C2746083

Summaries for Deafness, Autosomal Recessive 77

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 77: A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.

MalaCards based summary : Deafness, Autosomal Recessive 77, also known as dfnb77, is related to deafness, autosomal recessive 85 and deafness, autosomal recessive 53. An important gene associated with Deafness, Autosomal Recessive 77 is LOXHD1 (Lipoxygenase Homology PLAT Domains 1). Related phenotypes are bilateral sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the LOXHD1 gene on chromosome 18q21.

More information from OMIM: 613079 PS220290

Related Diseases for Deafness, Autosomal Recessive 77

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 77 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 85 10.1 PJVK LHFPL5
2 deafness, autosomal recessive 53 10.1 PJVK LHFPL5
3 y-linked monogenic disease 10.1 TMPRSS3 CDH23
4 deafness, autosomal recessive 61 10.1 SLC26A4 MYO3A
5 deafness, autosomal recessive 67 10.1 PJVK LHFPL5
6 deafness, autosomal recessive 22 10.1 PJVK LHFPL5
7 deafness, autosomal recessive 25 10.1 TMPRSS3 PJVK
8 deafness, autosomal dominant 20 10.1 SLC26A4 CDH23
9 deafness, autosomal recessive 93 10.0 PJVK GJB2
10 deafness, autosomal recessive 91 10.0 GJB2 CDH23
11 deafness, autosomal recessive 79 10.0 MYO3A GJB2
12 baraitser-winter syndrome 10.0 SLC26A4 CDH23
13 deafness, autosomal recessive 63 10.0 PJVK LHFPL5
14 usher syndrome, type ic 10.0 GJB2 CDH23
15 deafness, autosomal recessive 49 10.0 PJVK GJB2
16 deafness, autosomal dominant 1, with or without thrombocytopenia 10.0 MYO3A GJB2
17 deafness, autosomal dominant 3b 10.0 LHFPL5 GJB2
18 auditory neuropathy, autosomal dominant, 1 10.0 PJVK GJB2
19 deafness, autosomal recessive 6 10.0 PJVK LHFPL5 CDH23
20 deafness, autosomal recessive 21 10.0 PJVK GJB2
21 deafness, autosomal dominant 2a 10.0 LHFPL5 GJB2
22 serous labyrinthitis 10.0 SLC26A4 GJB2
23 corneal dystrophy 10.0
24 labyrinthitis 10.0 SLC26A4 GJB2
25 deafness, autosomal dominant 56 9.9 SLC26A4 GJB2
26 deafness, autosomal recessive 13 9.9 TMPRSS3 PJVK MYO3A
27 drug-induced hearing loss 9.9 SLC26A4 GJB2
28 deafness, autosomal recessive 23 9.9 GJB2 CDH23
29 deafness, autosomal recessive 35 9.9 TMPRSS3 PJVK CDH23
30 ear malformation 9.9 SLC26A4 GJB2
31 deafness, autosomal dominant 11 9.9 MYO3A GJB2 CDH23
32 non-syndromic genetic deafness 9.9 MYO3A GJB2 CDH23
33 hereditary hearing loss and deafness 9.9 GJB2 CDH23
34 x-linked nonsyndromic deafness 9.9 SLC26A4 GJB2
35 deafness, autosomal recessive 16 9.8 LHFPL5 GJB2 CDH23
36 deafness, autosomal dominant 9 9.8 SLC26A4 GJB2
37 deafness, autosomal recessive 39 9.8 TMPRSS3 LOXHD1 GJB2
38 peripheral vertigo 9.8 SLC26A4 GJB2
39 deafness, autosomal dominant 41 9.8 SLC26A4 GJB2 CDH23
40 deafness, autosomal dominant 6 9.8 SLC26A4 GJB2 CDH23
41 pendred syndrome 9.8 SLC26A4 GJB2 CDH23
42 inner ear disease 9.8 SLC26A4 GJB2 CDH23
43 waardenburg's syndrome 9.8 SLC26A4 GJB2 CDH23
44 stickler syndrome 9.8 SLC26A4 GJB2 CDH23
45 deafness, autosomal recessive 1a 9.8 SLC26A4 PJVK GJB2
46 meniere disease 9.7 SLC26A4 GJB2
47 deafness, aminoglycoside-induced 9.7 SLC26A4 GJB2
48 deafness, autosomal recessive 8 9.6 TMPRSS3 PJVK LOXHD1 GJB2
49 deafness, x-linked 2 9.6 SLC26A4 GJB2
50 deafness, autosomal dominant 36 9.6 SLC26A4 LHFPL5 GJB2 CDH23

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 77:



Diseases related to Deafness, Autosomal Recessive 77

Symptoms & Phenotypes for Deafness, Autosomal Recessive 77

Human phenotypes related to Deafness, Autosomal Recessive 77:

31
# Description HPO Frequency HPO Source Accession
1 bilateral sensorineural hearing impairment 31 very rare (1%) HP:0008619

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, bilateral (milder hearing loss at low frequencies)

Clinical features from OMIM®:

613079 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 77:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CDH23 GJB2 LHFPL5 MYO3A PJVK SLC26A4
2 nervous system MP:0003631 9.23 CDH23 GJB2 LHFPL5 MYO3A PJVK PKD1

Drugs & Therapeutics for Deafness, Autosomal Recessive 77

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 77

Genetic Tests for Deafness, Autosomal Recessive 77

Genetic tests related to Deafness, Autosomal Recessive 77:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 77 29 LOXHD1

Anatomical Context for Deafness, Autosomal Recessive 77

Publications for Deafness, Autosomal Recessive 77

Articles related to Deafness, Autosomal Recessive 77:

(show all 14)
# Title Authors PMID Year
1
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. 6 57 61
19732867 2009
2
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 6 57
21465660 2011
3
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 6
27959697 2017
4
Mutations in LOXHD1 gene cause various types and severities of hearing loss. 6
25792669 2015
5
Disease variants in genomes of 44 centenarians. 6
25333069 2014
6
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. 6
23897863 2013
7
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. 6
22975204 2012
8
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. 6
23226338 2012
9
Loxhd1 mutations cause mechanotransduction defects in cochlear hair cells. 61
33707295 2021
10
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. 61
32149082 2020
11
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. 61
31547530 2019
12
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family. 61
30760222 2019
13
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy. 61
29676012 2018
14
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1. 61
26973026 2016

Variations for Deafness, Autosomal Recessive 77

ClinVar genetic disease variations for Deafness, Autosomal Recessive 77:

6 (show top 50) (show all 353)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOXHD1 NM_144612.6(LOXHD1):c.4099G>T (p.Glu1367Ter) SNV Pathogenic 163910 rs373937326 GRCh37: 18:44114411-44114411
GRCh38: 18:46534448-46534448
2 LOXHD1 NM_144612.6(LOXHD1):c.46del (p.Leu16fs) Deletion Pathogenic 813824 rs1599083635 GRCh37: 18:44236951-44236951
GRCh38: 18:46656988-46656988
3 LOXHD1 NM_001384474.1(LOXHD1):c.3351-1G>A SNV Pathogenic 982257 GRCh37: 18:44127022-44127022
GRCh38: 18:46547059-46547059
4 LOXHD1 NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter) SNV Pathogenic 982258 GRCh37: 18:44113253-44113253
GRCh38: 18:46533290-46533290
5 LOXHD1 NM_144612.6(LOXHD1):c.4843G>A (p.Gly1615Arg) SNV Pathogenic 402259 rs768835732 GRCh37: 18:44104462-44104462
GRCh38: 18:46524499-46524499
6 LOXHD1 NM_144612.6(LOXHD1):c.5894dup (p.Gly1966fs) Duplication Pathogenic 236044 rs878853231 GRCh37: 18:44065083-44065084
GRCh38: 18:46485120-46485121
7 LOXHD1 NM_144612.6(LOXHD1):c.2008C>T (p.Arg670Ter) SNV Pathogenic 395 rs121918370 GRCh37: 18:44152088-44152088
GRCh38: 18:46572125-46572125
8 LOXHD1 NM_144612.6(LOXHD1):c.3169C>T (p.Arg1057Ter) SNV Pathogenic 179755 rs727505104 GRCh37: 18:44139458-44139458
GRCh38: 18:46559495-46559495
9 LOXHD1 NM_001384474.1(LOXHD1):c.326+1G>A SNV Pathogenic 1032447 GRCh37: 18:44221918-44221918
GRCh38: 18:46641955-46641955
10 LOXHD1 NM_001384474.1(LOXHD1):c.1756dup (p.Glu586fs) Duplication Pathogenic 1032446 GRCh37: 18:44159645-44159646
GRCh38: 18:46579682-46579683
11 LOXHD1 NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs) Deletion Pathogenic 841246 GRCh37: 18:44065090-44065090
GRCh38: 18:46485127-46485127
12 LOXHD1 NM_144612.6(LOXHD1):c.5944C>T (p.Arg1982Ter) SNV Pathogenic 497393 rs1306586204 GRCh37: 18:44065034-44065034
GRCh38: 18:46485071-46485071
13 LOXHD1 NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter) SNV Pathogenic 860807 GRCh37: 18:44140046-44140046
GRCh38: 18:46560083-46560083
14 LOXHD1 NM_144612.6(LOXHD1):c.4714C>T (p.Arg1572Ter) SNV Pathogenic 30990 rs75949023 GRCh37: 18:44104697-44104697
GRCh38: 18:46524734-46524734
15 LOXHD1 NM_144612.6(LOXHD1):c.4480C>T (p.Arg1494Ter) SNV Pathogenic/Likely pathogenic 178396 rs201587138 GRCh37: 18:44109190-44109190
GRCh38: 18:46529227-46529227
16 LOXHD1 NM_144612.6(LOXHD1):c.4714C>T (p.Arg1572Ter) SNV Pathogenic/Likely pathogenic 30990 rs75949023 GRCh37: 18:44104697-44104697
GRCh38: 18:46524734-46524734
17 LOXHD1 NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) SNV Likely pathogenic 554146 rs961865375 GRCh37: 18:44102147-44102147
GRCh38: 18:46522184-46522184
18 LOXHD1 NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs) Deletion Likely pathogenic 869478 GRCh37: 18:44065093-44065093
GRCh38: 18:46485130-46485130
19 LOXHD1 NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) SNV Likely pathogenic 291140 rs886044666 GRCh37: 18:44219648-44219648
GRCh38: 18:46639685-46639685
20 LOXHD1 NM_144612.6(LOXHD1):c.3061+1G>A SNV Likely pathogenic 523622 rs537227442 GRCh37: 18:44140045-44140045
GRCh38: 18:46560082-46560082
21 LOXHD1 NM_001384474.1(LOXHD1):c.4212+5G>A SNV Likely pathogenic 982253 GRCh37: 18:44114293-44114293
GRCh38: 18:46534330-46534330
22 LOXHD1 NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) SNV Likely pathogenic 982254 GRCh37: 18:44063667-44063667
GRCh38: 18:46483704-46483704
23 LOXHD1 NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) SNV Likely pathogenic 982255 GRCh37: 18:44101107-44101107
GRCh38: 18:46521144-46521144
24 LOXHD1 NM_144612.6(LOXHD1):c.4096-1G>C SNV Likely pathogenic 554791 rs749861944 GRCh37: 18:44114415-44114415
GRCh38: 18:46534452-46534452
25 LOXHD1 NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) Insertion Likely pathogenic 817890 rs1598914701 GRCh37: 18:44104510-44104511
GRCh38: 18:46524547-46524548
26 LOXHD1 NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) SNV Conflicting interpretations of pathogenicity 178397 rs146739496 GRCh37: 18:44113283-44113283
GRCh38: 18:46533320-46533320
27 LOXHD1 NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) SNV Conflicting interpretations of pathogenicity 178400 rs112463030 GRCh37: 18:44157797-44157797
GRCh38: 18:46577834-46577834
28 LOXHD1 NM_144612.6(LOXHD1):c.5214-3C>T SNV Conflicting interpretations of pathogenicity 163897 rs528236655 GRCh37: 18:44089781-44089781
GRCh38: 18:46509818-46509818
29 LOXHD1 NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) SNV Conflicting interpretations of pathogenicity 178403 rs183531840 GRCh37: 18:44181286-44181286
GRCh38: 18:46601323-46601323
30 LOXHD1 NM_144612.6(LOXHD1):c.966G>C (p.Gly322=) SNV Conflicting interpretations of pathogenicity 178615 rs114082868 GRCh37: 18:44181348-44181348
GRCh38: 18:46601385-46601385
31 LOXHD1 NM_144612.6(LOXHD1):c.611-15T>C SNV Conflicting interpretations of pathogenicity 178404 rs146912450 GRCh37: 18:44190902-44190902
GRCh38: 18:46610939-46610939
32 LOXHD1 NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) SNV Conflicting interpretations of pathogenicity 47924 rs35727744 GRCh37: 18:44149569-44149569
GRCh38: 18:46569606-46569606
33 LOXHD1 NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) SNV Conflicting interpretations of pathogenicity 178612 rs187587197 GRCh37: 18:44109144-44109144
GRCh38: 18:46529181-46529181
34 LOXHD1 NM_144612.6(LOXHD1):c.3024C>T (p.Val1008=) SNV Conflicting interpretations of pathogenicity 227515 rs370616818 GRCh37: 18:44140083-44140083
GRCh38: 18:46560120-46560120
35 LOXHD1 NM_144612.6(LOXHD1):c.1945G>A (p.Asp649Asn) SNV Conflicting interpretations of pathogenicity 178401 rs141932807 GRCh37: 18:44157695-44157695
GRCh38: 18:46577732-46577732
36 LOXHD1 NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) SNV Conflicting interpretations of pathogenicity 47933 rs118174674 GRCh37: 18:44137400-44137400
GRCh38: 18:46557437-46557437
37 LOXHD1 NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys) SNV Conflicting interpretations of pathogenicity 228822 rs367630521 GRCh37: 18:44140193-44140193
GRCh38: 18:46560230-46560230
38 LOXHD1 NM_144612.6(LOXHD1):c.1894G>T (p.Gly632Cys) SNV Conflicting interpretations of pathogenicity 47923 rs35088381 GRCh37: 18:44157746-44157746
GRCh38: 18:46577783-46577783
39 LOXHD1 NM_144612.6(LOXHD1):c.1876G>T (p.Gly626Cys) SNV Conflicting interpretations of pathogenicity 47922 rs34589386 GRCh37: 18:44157764-44157764
GRCh38: 18:46577801-46577801
40 LOXHD1 NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala) SNV Conflicting interpretations of pathogenicity 47920 rs35007621 GRCh37: 18:44159660-44159660
GRCh38: 18:46579697-46579697
41 LOXHD1 NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) SNV Conflicting interpretations of pathogenicity 47943 rs373924055 GRCh37: 18:44098178-44098178
GRCh38: 18:46518215-46518215
42 LOXHD1 NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) SNV Conflicting interpretations of pathogenicity 178391 rs199645176 GRCh37: 18:44063648-44063648
GRCh38: 18:46483685-46483685
43 LOXHD1 NM_144612.6(LOXHD1):c.2251C>T (p.Arg751Trp) SNV Uncertain significance 47929 rs376539851 GRCh37: 18:44146406-44146406
GRCh38: 18:46566443-46566443
44 LOXHD1 NM_144612.6(LOXHD1):c.1810-6C>A SNV Uncertain significance 178994 rs199804946 GRCh37: 18:44157836-44157836
GRCh38: 18:46577873-46577873
45 LOXHD1 NM_144612.6(LOXHD1):c.6555C>T (p.Ala2185=) SNV Uncertain significance 178390 rs189873733 GRCh37: 18:44057516-44057516
GRCh38: 18:46477553-46477553
46 LOXHD1 NM_144612.6(LOXHD1):c.5204A>G (p.Lys1735Arg) SNV Uncertain significance 326835 rs368286192 GRCh37: 18:44098101-44098101
GRCh38: 18:46518138-46518138
47 LOXHD1 NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) SNV Uncertain significance 163930 rs192376005 GRCh37: 18:44171980-44171980
GRCh38: 18:46592017-46592017
48 LOXHD1 NM_144612.6(LOXHD1):c.4824C>G (p.Val1608=) SNV Uncertain significance 227527 rs114557260 GRCh37: 18:44104481-44104481
GRCh38: 18:46524518-46524518
49 LOXHD1 NM_144612.6(LOXHD1):c.4376-6G>A SNV Uncertain significance 163906 rs369463541 GRCh37: 18:44109300-44109300
GRCh38: 18:46529337-46529337
50 LOXHD1 NM_144612.6(LOXHD1):c.4523G>A (p.Arg1508Lys) SNV Uncertain significance 326840 rs199518750 GRCh37: 18:44109147-44109147
GRCh38: 18:46529184-46529184

Expression for Deafness, Autosomal Recessive 77

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 77.

Pathways for Deafness, Autosomal Recessive 77

GO Terms for Deafness, Autosomal Recessive 77

Cellular components related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.16 PKD1 GJB2
2 stereocilium tip GO:0032426 8.96 MYO3A LHFPL5
3 stereocilium GO:0032420 8.8 MYO3A LOXHD1 CDH23

Biological processes related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.23 TMPRSS3 SLC26A4 PJVK MYO3A LOXHD1 LHFPL5
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 PJVK LHFPL5

Sources for Deafness, Autosomal Recessive 77

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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